Congenital Heart Disease

What is congenital heart disease?

Congenital heart disease (CHD) is an issue with your heart’s structure that’s present at birth. These issues — which keep blood from flowing normally — may include:

• A hole in your heart wall.
• Issues with your blood vessels (too many or too few, blood flowing too slowly, to the wrong place or in the wrong direction).
• Problems with your heart valves that control blood flow.

Some cases of CHD are simple and may not cause any symptoms. But others can be life-threatening and require treatment in infancy.

Healthcare providers can detect heart defects early (before or shortly after birth). But sometimes, people don’t get a CHD diagnosis until childhood, adolescence or adulthood.

What are the types of congenital heart disease?

There are two main groups of CHD:

• Cyanotic (low oxygen in the blood) congenital heart disease.
• Acyanotic (blood oxygen level is acceptable) congenital heart disease.

Cyanotic congenital heart disease

These heart anomalies reduce the amount of oxygen your heart can deliver to the rest of your body. Babies born with cyanotic congenital heart disease usually have low levels of oxygen and need surgery. Examples include:

• Left heart obstructive lesions: These reduce blood flow between the heart and the rest of your body (systemic blood flow). Examples include hypoplastic left heart syndrome (when your heart is too small on the left side) and interrupted aortic arch (aorta is incomplete).
• Right heart obstructive lesions: These reduce blood flow between your heart and lungs (pulmonary blood flow). Examples include tetralogy of Fallot (a group of four anomalies), Ebstein’s anomaly, pulmonary atresia and tricuspid atresia (valves don’t develop correctly).
• Mixing lesions: The body mixes systemic and pulmonary blood flow. One example is transposition of the great arteries, which means the two main arteries leaving your heart are in the wrong place. Another is truncus arteriosus, when your heart has only one main artery, instead of two, to carry blood to your body.

Acyanotic congenital heart disease

This involves an issue that makes blood pump through your body in an abnormal way. For example:

• Hole in the heart: One of your heart’s walls can have an abnormal opening. Depending on the location of the hole, this may be called atrial septal defect, atrioventricular canal, patent ductus arteriosus or ventricular septal defect.
• Problem with the aorta: The aorta is the main artery that carries blood away from your heart to the rest of your body. It can be too narrow (aortic coarctation). Or the aortic valve (which opens and closes to regulate blood flow) may be restricted in opening or have only two flaps instead of three (called bicuspid aortic valve).
• Problem with the pulmonary artery: The pulmonary artery carries blood from the right side of your heart to your lungs to get oxygen. If this artery is too narrow, it’s called pulmonary artery stenosis.

How common is congenital heart disease?

Congenital heart disease is the most common type of congenital condition. CHDs affect 1% of U.S. births.

What are the symptoms?

Congenital heart disease symptoms may start as soon as a baby is born or may not appear until later in life. They can include:

• Cyanosis (bluish skin, lips or nails).
• Excessive sleepiness.
• Fast breathing or trouble breathing.
• Fatigue (extreme tiredness).
• Getting unusually tired or out of breath during exercise.
• Heart murmur (a swishing sound your heart makes that may indicate abnormal blood flow).
• Poor blood circulation.
• Weak pulse or pounding heartbeat.

The signs and symptoms of congenital heart defects vary widely, depending on:

• Age.
• The number of heart issues (a person can be born with more than one).
• The severity of the condition.
• The type of congenital condition.

What causes congenital heart disease?

CHD happens when the fetal heart doesn’t develop correctly in the uterus. Scientists don’t fully understand why that happens, but it may be related to:

• Having abnormal chromosomes or genetics that come from parents or happen randomly.
• Drinking alcohol, smoking or breathing in secondhand smoke during pregnancy.
• Taking medications during pregnancy like certain drugs for high blood pressure, high cholesterol or acne.
• Having an illness during pregnancy (diabetes, phenylketonuria or a viral infection like rubella).

Researchers consider these to be the risk factors for congenital heart disease.

What are the complications of congenital heart disease?

Congenital heart defects can make you more likely to have:

• Abnormal heart rhythms (arrhythmias).
• Heart failure.
• Kidney disease.
• Blood clots.
• Pulmonary hypertension.
• Endocarditis.
• Liver disease.
• Speech issues.
• Attention-deficit/hyperactivity disorder (ADHD).

How is congenital heart disease diagnosed?

Sometimes a healthcare provider finds a congenital condition before a baby is born. If your provider finds anything unusual during a routine prenatal ultrasound, you and the fetus may need further testing. For example, a fetal echocardiogram uses harmless sound waves to create pictures of the fetal heart.

Providers detect other heart issues soon after a baby is born. For example, they can diagnose cyanotic CHD with pulse oximetry. The simple, painless test uses sensors on your baby’s fingers or toes to find out if oxygen levels are too low. Sometimes, people don’t get a congenital heart defect diagnosis until later in life.

What tests will be done to diagnose congenital heart disease?

Tests that can help diagnose CHD in newborns, children or adults include:

• Physical exam: During an exam, a healthcare provider will listen to your heart for any abnormal sounds.
• Chest X-ray: A chest X-ray takes pictures of the inside of your chest to reveal any structural abnormalities.
• Electrocardiogram: Electrocardiogram (EKG or ECG) measures the electrical activity of your heart.
• Echocardiogram: An echocardiogram (echo) uses ultrasound to create images of your heart’s valves and chambers.
• Heart catheterization: A healthcare provider can tell how well your heart is pumping and circulating blood by performing a heart catheterization. Providers also call it cardiac catheterization or coronary angiography.
• Magnetic resonance imaging (MRI): MRI for heart disease can create detailed pictures of your heart.

How is congenital heart disease treated?

Congenital heart disease treatment may involve:

• A catheter procedure to place a plug into a defect.
• Medications to help your heart work more efficiently or to manage blood pressure.
• A nonsurgical procedure to fix an issue using a closing device.
• Oxygen therapy, which provides higher levels of oxygen than normal room air would.
• Prostaglandin E1, which relaxes smooth heart muscle and can keep open the ductus arteriosus (a blood vessel that normally closes after birth), helping provide needed circulation.
• Surgery to repair an issue, open up blood flow or redirect blood. In severe cases, people need a heart transplant.

Some cases of CHD may not need any treatment. Others are life-threatening and need treatment soon after birth.

Complications of the treatment

Complications of congenital heart disease treatment vary by procedure. They may include:

• Bleeding.
• Infection.
• Arrhythmia (abnormal heart rhythm).
• Scar tissue.
• Blood clots.
• Aneurysm (stretched blood vessel).
• Heart attack.
• Leaky heart valve.

How long does it take to recover from this treatment?

Depending on the procedure your child is having, they may need several days, a week or even several months to recover. Ask your child’s provider about recovery for the specific procedure they’re planning.

Can congenital heart disease be prevented?

There aren’t any proven strategies to prevent CHD. People are born with it, usually from unknown causes. It’s beyond their control.

How can I lower my risk?

Scientists don’t have all the answers yet as to what causes congenital heart defects other than random gene mutations. But some things — like smoking, alcohol and certain medications — place you at a higher risk, and you should avoid these during pregnancy.

You should follow your healthcare provider’s instructions during pregnancy, including:

• Don’t use recreational drugs.
• Get all recommended screening tests during pregnancy to detect problems as early as possible.
• Manage any health conditions, such as diabetes and phenylketonuria.
• Stop smoking and avoid secondhand smoke.
• Avoid alcohol.

What can I expect if I have congenital heart disease?

The outlook for people with congenital heart disease depends on the type of issue and its severity. Although serious cases can be life-threatening, many people with CHD live long, relatively normal and fulfilling lives.

Decades ago, only 10% of children with CHD survived into adulthood. Advances in diagnosis and treatment now help about 90% survive.

How long congenital heart disease lasts

Even after you get a surgical repair, congenital heart disease is a medical condition you need to tell your providers about for years to come. Depending on your situation, you can develop problems from congenital heart disease later.

How do I take care of myself?

To keep your heart as healthy as possible and prevent complications of congenital heart disease:

• Eat well-balanced, nutritious meals with heart-healthy foods.
• Exercise regularly (but only with your cardiologist’s approval).
• Maintain a weight that’s healthy for you.
• Tell all of your healthcare providers about the heart issue you have, all medications you take and what surgeries you’ve had.
• Understand the specific type of congenital condition you have and what the possible complications are.
• If you plan to become pregnant, talk to your cardiologist, obstetrician and primary care provider (PCP) well in advance. They’ll help you understand and manage the risks throughout your pregnancy.

When should I see my healthcare provider?

You should see a cardiologist regularly throughout your life to monitor and manage congenital heart disease and detect any complications. You may need more than one treatment over time to address issues that develop.

When should I go to the ER?

Take a person with congenital heart disease to the emergency room or call 911 (or your local emergency service number) if they experience:

• Dizziness.
• Shortness of breath.
• Chest pain.
• Fainting.

What questions should I ask my doctor?

You may want to ask your child’s healthcare provider:

• Which type of congenital heart disease does my child have?
• Would you consider their heart issue minor or major?
• What kind of treatment is best for my child?
• Will my child need surgery?
• Is there a support group for parents in my situation?